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Protein

Bestrophin-1

Gene

BEST1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.3 Publications

GO - Molecular functioni

GO - Biological processi

  • chloride transport Source: MGI
  • detection of light stimulus involved in visual perception Source: Ensembl
  • ion transmembrane transport Source: Reactome
  • regulation of calcium ion transport Source: Ensembl
  • transepithelial chloride transport Source: HGNC
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000167995-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-1
Alternative name(s):
TU15B
Vitelliform macular dystrophy protein 2
Gene namesi
Name:BEST1
Synonyms:VMD2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:12703. BEST1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Topological domaini47 – 70ExtracellularSequence analysisAdd BLAST24
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Topological domaini92 – 178CytoplasmicSequence analysisAdd BLAST87
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 228ExtracellularSequence analysisAdd BLAST29
Intramembranei229 – 249Sequence analysisAdd BLAST21
Topological domaini250 – 270ExtracellularSequence analysisAdd BLAST21
Transmembranei271 – 291HelicalSequence analysisAdd BLAST21
Topological domaini292 – 585CytoplasmicSequence analysisAdd BLAST294

GO - Cellular componenti

  • basolateral plasma membrane Source: UniProtKB
  • chloride channel complex Source: BHF-UCL
  • cytosol Source: HGNC
  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Macular dystrophy, vitelliform, 2 (VMD2)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
See also OMIM:153700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582733I → T in VMD2. 1 Publication1
Natural variantiVAR_0008306T → P in VMD2. 2 PublicationsCorresponds to variant rs28940275dbSNPEnsembl.1
Natural variantiVAR_0173666T → R in VMD2. Corresponds to variant rs281865204dbSNPEnsembl.1
Natural variantiVAR_0008319V → A in VMD2. Corresponds to variant rs281865205dbSNPEnsembl.1
Natural variantiVAR_0008329V → M in VMD2. Corresponds to variant rs28940276dbSNPEnsembl.1
Natural variantiVAR_00083310A → T in VMD2. Corresponds to variant rs281865206dbSNPEnsembl.1
Natural variantiVAR_01046810A → V in VMD2. 1 PublicationCorresponds to variant rs281865207dbSNPEnsembl.1
Natural variantiVAR_01736711N → I in VMD2. 1 PublicationCorresponds to variant rs281865208dbSNPEnsembl.1
Natural variantiVAR_01046913R → H in VMD2. 1 PublicationCorresponds to variant rs281865209dbSNPEnsembl.1
Natural variantiVAR_01047016S → F in VMD2. 1 PublicationCorresponds to variant rs281865210dbSNPEnsembl.1
Natural variantiVAR_01047117F → C in VMD2. 1 PublicationCorresponds to variant rs281865211dbSNPEnsembl.1
Natural variantiVAR_00083421L → V in VMD2. Corresponds to variant rs281865212dbSNPEnsembl.1
Natural variantiVAR_00083524W → C in VMD2. Corresponds to variant rs281865213dbSNPEnsembl.1
Natural variantiVAR_00083625R → Q in VMD2. Corresponds to variant rs281865215dbSNPEnsembl.1
Natural variantiVAR_00083725R → W in VMD2. Corresponds to variant rs281865214dbSNPEnsembl.1
Natural variantiVAR_01736826G → R in VMD2. 1 Publication1
Natural variantiVAR_00083827S → R in VMD2. Corresponds to variant rs281865216dbSNPEnsembl.1
Natural variantiVAR_01736929Y → H in VMD2. 1 PublicationCorresponds to variant rs281865217dbSNPEnsembl.1
Natural variantiVAR_01737030K → R in VMD2. Corresponds to variant rs281865218dbSNPEnsembl.1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918288dbSNPEnsembl.1
Natural variantiVAR_01737247R → H in VMD2. Corresponds to variant rs28940278dbSNPEnsembl.1
Natural variantiVAR_00083958Q → L in VMD2. Corresponds to variant rs281865529dbSNPEnsembl.1
Natural variantiVAR_01047273I → N in VMD2. 1 Publication1
Natural variantiVAR_01737380F → L in VMD2. Corresponds to variant rs281865221dbSNPEnsembl.1
Natural variantiVAR_01047382L → V in VMD2. 2 PublicationsCorresponds to variant rs281865530dbSNPEnsembl.1
Natural variantiVAR_00084185Y → H in VMD2; decreased chloride and bicarbonate conductance. 3 PublicationsCorresponds to variant rs28940274dbSNPEnsembl.1
Natural variantiVAR_01737489V → A in VMD2. 1 Publication1
Natural variantiVAR_01737591T → I in VMD2. Corresponds to variant rs281865223dbSNPEnsembl.1
Natural variantiVAR_01047492R → C in VMD2; loss of cloride and bicarbonate conductance. 2 PublicationsCorresponds to variant rs281865224dbSNPEnsembl.1
Natural variantiVAR_01047592R → H in VMD2. 1 PublicationCorresponds to variant rs281865225dbSNPEnsembl.1
Natural variantiVAR_00084292R → S in VMD2. Corresponds to variant rs281865224dbSNPEnsembl.1
Natural variantiVAR_00084393W → C in VMD2; no effect on subcellular location in transfected HEK293T cells; loss of cloride and bicarbonate conductance. 4 PublicationsCorresponds to variant rs28940273dbSNPEnsembl.1
Natural variantiVAR_01047696Q → H in VMD2. 1 PublicationCorresponds to variant rs281865226dbSNPEnsembl.1
Natural variantiVAR_00084499N → K in VMD2. Corresponds to variant rs281865227dbSNPEnsembl.1
Natural variantiVAR_000845100L → R in VMD2. Corresponds to variant rs281865228dbSNPEnsembl.1
Natural variantiVAR_017376101P → T in VMD2. Corresponds to variant rs281865229dbSNPEnsembl.1
Natural variantiVAR_017377102W → R in VMD2. 1 PublicationCorresponds to variant rs281865230dbSNPEnsembl.1
Natural variantiVAR_000846104D → E in VMD2. Corresponds to variant rs281865232dbSNPEnsembl.1
Natural variantiVAR_017378104D → H in VMD2. 1 PublicationCorresponds to variant rs281865231dbSNPEnsembl.1
Natural variantiVAR_025732113F → L in VMD2. 1 Publication1
Natural variantiVAR_017379133N → K in VMD2. Corresponds to variant rs281865233dbSNPEnsembl.1
Natural variantiVAR_010478135G → S in VMD2. 1 PublicationCorresponds to variant rs281865234dbSNPEnsembl.1
Natural variantiVAR_017380140L → R in VMD2. Corresponds to variant rs281865235dbSNPEnsembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918284dbSNPEnsembl.1
Natural variantiVAR_010479146A → K in VMD2; sporadic; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs1800995dbSNPEnsembl.1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. 2 PublicationsCorresponds to variant rs200277476dbSNPEnsembl.1
Natural variantiVAR_025733201I → T in VMD2. 1 PublicationCorresponds to variant rs199529046dbSNPEnsembl.1
Natural variantiVAR_025734207L → I in VMD2. 1 PublicationCorresponds to variant rs74653691dbSNPEnsembl.1
Natural variantiVAR_000848209S → N in VMD2. Corresponds to variant rs281865237dbSNPEnsembl.1
Natural variantiVAR_000849218R → C in VMD2. 4 PublicationsCorresponds to variant rs281865238dbSNPEnsembl.1
Natural variantiVAR_010481218R → H in VMD2. 1 PublicationCorresponds to variant rs281865239dbSNPEnsembl.1
Natural variantiVAR_000850218R → Q in VMD2. 1
Natural variantiVAR_000851218R → S in VMD2. 1 PublicationCorresponds to variant rs281865238dbSNPEnsembl.1
Natural variantiVAR_025735221C → W in VMD2. 1 PublicationCorresponds to variant rs281865240dbSNPEnsembl.1
Natural variantiVAR_025736222G → V in a family affected by Leber congenital amaurosis/VMD2. 1 PublicationCorresponds to variant rs281865241dbSNPEnsembl.1
Natural variantiVAR_000852224L → M in VMD2. Corresponds to variant rs281865242dbSNPEnsembl.1
Natural variantiVAR_025737224L → P in VMD2. 1 PublicationCorresponds to variant rs281865243dbSNPEnsembl.1
Natural variantiVAR_000854227Y → N in VMD2. 2 PublicationsCorresponds to variant rs28941469dbSNPEnsembl.1
Natural variantiVAR_000855231S → R in VMD2. Corresponds to variant rs281865244dbSNPEnsembl.1
Natural variantiVAR_010482235V → L in VMD2. 1 PublicationCorresponds to variant rs281865245dbSNPEnsembl.1
Natural variantiVAR_000856235V → M in VMD2. Corresponds to variant rs281865245dbSNPEnsembl.1
Natural variantiVAR_000857237T → R in VMD2. 1 PublicationCorresponds to variant rs281865246dbSNPEnsembl.1
Natural variantiVAR_025738241T → N in VMD2. 1 PublicationCorresponds to variant rs281865247dbSNPEnsembl.1
Natural variantiVAR_058277242V → M in VMD2; late-onset of visual disturbance. 1 Publication1
Natural variantiVAR_025739243A → T in VMD2. 1 PublicationCorresponds to variant rs28940570dbSNPEnsembl.1
Natural variantiVAR_000858243A → V in VMD2. 1 PublicationCorresponds to variant rs28940570dbSNPEnsembl.1
Natural variantiVAR_025741276F → L in VMD2. 1 PublicationCorresponds to variant rs281865248dbSNPEnsembl.1
Natural variantiVAR_010483293Q → K in VMD2. 1 PublicationCorresponds to variant rs281865250dbSNPEnsembl.1
Natural variantiVAR_025742294L → V in VMD2. 1 PublicationCorresponds to variant rs281865251dbSNPEnsembl.1
Natural variantiVAR_025743295I → T in VMD2. 1 PublicationCorresponds to variant rs281865253dbSNPEnsembl.1
Natural variantiVAR_000859295Missing in VMD2. 1
Natural variantiVAR_025744296N → H in VMD2. 1 PublicationCorresponds to variant rs281865254dbSNPEnsembl.1
Natural variantiVAR_010484296N → S in VMD2. 1 PublicationCorresponds to variant rs281865255dbSNPEnsembl.1
Natural variantiVAR_000860297P → A in VMD2. Corresponds to variant rs1805143dbSNPEnsembl.1
Natural variantiVAR_010485297P → S in VMD2. 2 PublicationsCorresponds to variant rs1805143dbSNPEnsembl.1
Natural variantiVAR_025745298F → S in VMD2. 1 PublicationCorresponds to variant rs281865257dbSNPEnsembl.1
Natural variantiVAR_058313299G → A in VMD2. 1 Publication1
Natural variantiVAR_000861299G → E in VMD2. 1 PublicationCorresponds to variant rs28941468dbSNPEnsembl.1
Natural variantiVAR_010486300E → D in VMD2. 3 PublicationsCorresponds to variant rs1805144dbSNPEnsembl.1
Natural variantiVAR_000862300E → K in VMD2. Corresponds to variant rs281865258dbSNPEnsembl.1
Natural variantiVAR_000863301D → E in VMD2. 1 PublicationCorresponds to variant rs281865261dbSNPEnsembl.1
Natural variantiVAR_000864301D → N in VMD2. Corresponds to variant rs281865259dbSNPEnsembl.1
Natural variantiVAR_058278302 – 304Missing in VMD2. 1 Publication3
Natural variantiVAR_025746302D → G in VMD2. 1 PublicationCorresponds to variant rs281865263dbSNPEnsembl.1
Natural variantiVAR_025747302D → H in VMD2. 1 PublicationCorresponds to variant rs281865262dbSNPEnsembl.1
Natural variantiVAR_025748302D → V in VMD2. 1 PublicationCorresponds to variant rs281865263dbSNPEnsembl.1
Natural variantiVAR_025749303D → E in VMD2. 1 PublicationCorresponds to variant rs281865264dbSNPEnsembl.1
Natural variantiVAR_000865305F → S in VMD2. Corresponds to variant rs281865265dbSNPEnsembl.1
Natural variantiVAR_025750306E → D in VMD2. 1 PublicationCorresponds to variant rs281865267dbSNPEnsembl.1
Natural variantiVAR_025751306E → G in VMD2. 1 PublicationCorresponds to variant rs281865266dbSNPEnsembl.1
Natural variantiVAR_025752307T → A in VMD2. 1 PublicationCorresponds to variant rs281865268dbSNPEnsembl.1
Natural variantiVAR_010487307T → I in VMD2. 1 PublicationCorresponds to variant rs281865269dbSNPEnsembl.1
Natural variantiVAR_025753308N → S in VMD2. 1 PublicationCorresponds to variant rs281865270dbSNPEnsembl.1
Natural variantiVAR_000866310I → T in VMD2. Corresponds to variant rs281865271dbSNPEnsembl.1
Natural variantiVAR_000867311V → G in VMD2. 1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 3 PublicationsCorresponds to variant rs281865277dbSNPEnsembl.1
Retinitis pigmentosa 50 (RP50)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613194
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. 2 PublicationsCorresponds to variant rs267606678dbSNPEnsembl.1
Natural variantiVAR_063170205I → T in RP50; reduced channel activity. 1 PublicationCorresponds to variant rs267606680dbSNPEnsembl.1
Natural variantiVAR_000853227Y → C in RP50. 1 PublicationCorresponds to variant rs267606677dbSNPEnsembl.1
Natural variantiVAR_063171228D → N in RP50; causes protein mislocalization to the cytoplasm. 1 PublicationCorresponds to variant rs267606676dbSNPEnsembl.1
Bestrophinopathy, autosomal recessive (ARB)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.
See also OMIM:611809
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07534640L → P in ARB; unknown pathological significance; no effect on subcellular location in transfected HEK293T cells; loss of chloride conductance. 1 Publication1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918288dbSNPEnsembl.1
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. 2 PublicationsCorresponds to variant rs267606678dbSNPEnsembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918284dbSNPEnsembl.1
Natural variantiVAR_043493152P → A in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced whole-cell conductance. 2 Publications1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. 2 PublicationsCorresponds to variant rs200277476dbSNPEnsembl.1
Natural variantiVAR_075347202R → W in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 1 PublicationCorresponds to variant rs765998048dbSNPEnsembl.1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 3 PublicationsCorresponds to variant rs281865277dbSNPEnsembl.1
Natural variantiVAR_043494317V → M in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 2 PublicationsCorresponds to variant rs121918287dbSNPEnsembl.1
Natural variantiVAR_043495325M → T in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 2 PublicationsCorresponds to variant rs368387447dbSNPEnsembl.1
Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.
See also OMIM:193220
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05827486V → M in ADVIRC. 1 PublicationCorresponds to variant rs121918289dbSNPEnsembl.1
Natural variantiVAR_058275236Y → C in ADVIRC. 1 PublicationCorresponds to variant rs121918291dbSNPEnsembl.1
Natural variantiVAR_058276239V → M in ADVIRC. 1 PublicationCorresponds to variant rs121918290dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi7439.
MalaCardsiBEST1.
MIMi153700. phenotype.
193220. phenotype.
611809. phenotype.
613194. phenotype.
OpenTargetsiENSG00000167995.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
3086. Autosomal dominant vitreoretinochoroidopathy.
139455. Autosomal recessive bestrophinopathy.
1243. Best vitelliform macular dystrophy.
263347. MRCS syndrome.
791. Retinitis pigmentosa.
PharmGKBiPA162377454.

Polymorphism and mutation databases

BioMutaiBEST1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001431141 – 585Bestrophin-1Add BLAST585

Post-translational modificationi

Phosphorylated by PP2A.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO76090.
PeptideAtlasiO76090.
PRIDEiO76090.

PTM databases

iPTMnetiO76090.
PhosphoSitePlusiO76090.

Expressioni

Tissue specificityi

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Gene expression databases

BgeeiENSG00000167995.
CleanExiHS_BEST1.
ExpressionAtlasiO76090. baseline and differential.
GenevisibleiO76090. HS.

Interactioni

Subunit structurei

Homooligomer (tetramer or pentamer) (PubMed:26200502). May interact with PPP2CB and PPP2R1B (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-11693370,EBI-11693370

Protein-protein interaction databases

BioGridi113279. 1 interactor.
MINTiMINT-239943.
STRINGi9606.ENSP00000399709.

Structurei

3D structure databases

ProteinModelPortaliO76090.
SMRiO76090.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3547. Eukaryota.
ENOG410XS3J. LUCA.
GeneTreeiENSGT00390000002997.
HOVERGENiHBG044928.
InParanoidiO76090.
KOiK13878.
OMAiFPSRRQG.
OrthoDBiEOG091G06XO.
PhylomeDBiO76090.
TreeFamiTF315803.

Family and domain databases

InterProiIPR033041. Best1.
IPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PTHR10736:SF4. PTHR10736:SF4. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O76090-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY
60 70 80 90 100
RLALTEEQQL MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL
110 120 130 140 150
PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR
160 170 180 190 200
FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR
210 220 230 240 250
IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT
260 270 280 290 300
CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
310 320 330 340 350
DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA
360 370 380 390 400
SAQFRRASFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD
410 420 430 440 450
HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV
460 470 480 490 500
DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK
510 520 530 540 550
SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN
560 570 580
HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS
Length:585
Mass (Da):67,684
Last modified:November 1, 1998 - v1
Checksum:iD0629AAF65BA1ACD
GO
Isoform 3 (identifier: O76090-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     581-585: DEAHS → SVLHLNQGHC...EDFLGPGEGR

Show »
Length:604
Mass (Da):69,096
Checksum:i4E105E710FC438BE
GO
Isoform 4 (identifier: O76090-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     290-316: Missing.

Show »
Length:498
Mass (Da):57,349
Checksum:iEB111B7121ADC566
GO

Sequence cautioni

The sequence BAH12234 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAH13472 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0582733I → T in VMD2. 1 Publication1
Natural variantiVAR_0008306T → P in VMD2. 2 PublicationsCorresponds to variant rs28940275dbSNPEnsembl.1
Natural variantiVAR_0173666T → R in VMD2. Corresponds to variant rs281865204dbSNPEnsembl.1
Natural variantiVAR_0008319V → A in VMD2. Corresponds to variant rs281865205dbSNPEnsembl.1
Natural variantiVAR_0008329V → M in VMD2. Corresponds to variant rs28940276dbSNPEnsembl.1
Natural variantiVAR_00083310A → T in VMD2. Corresponds to variant rs281865206dbSNPEnsembl.1
Natural variantiVAR_01046810A → V in VMD2. 1 PublicationCorresponds to variant rs281865207dbSNPEnsembl.1
Natural variantiVAR_01736711N → I in VMD2. 1 PublicationCorresponds to variant rs281865208dbSNPEnsembl.1
Natural variantiVAR_01046913R → H in VMD2. 1 PublicationCorresponds to variant rs281865209dbSNPEnsembl.1
Natural variantiVAR_01047016S → F in VMD2. 1 PublicationCorresponds to variant rs281865210dbSNPEnsembl.1
Natural variantiVAR_01047117F → C in VMD2. 1 PublicationCorresponds to variant rs281865211dbSNPEnsembl.1
Natural variantiVAR_00083421L → V in VMD2. Corresponds to variant rs281865212dbSNPEnsembl.1
Natural variantiVAR_00083524W → C in VMD2. Corresponds to variant rs281865213dbSNPEnsembl.1
Natural variantiVAR_00083625R → Q in VMD2. Corresponds to variant rs281865215dbSNPEnsembl.1
Natural variantiVAR_00083725R → W in VMD2. Corresponds to variant rs281865214dbSNPEnsembl.1
Natural variantiVAR_01736826G → R in VMD2. 1 Publication1
Natural variantiVAR_00083827S → R in VMD2. Corresponds to variant rs281865216dbSNPEnsembl.1
Natural variantiVAR_01736929Y → H in VMD2. 1 PublicationCorresponds to variant rs281865217dbSNPEnsembl.1
Natural variantiVAR_01737030K → R in VMD2. Corresponds to variant rs281865218dbSNPEnsembl.1
Natural variantiVAR_07534640L → P in ARB; unknown pathological significance; no effect on subcellular location in transfected HEK293T cells; loss of chloride conductance. 1 Publication1
Natural variantiVAR_01737141L → P in VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918288dbSNPEnsembl.1
Natural variantiVAR_01737247R → H in VMD2. Corresponds to variant rs28940278dbSNPEnsembl.1
Natural variantiVAR_00083958Q → L in VMD2. Corresponds to variant rs281865529dbSNPEnsembl.1
Natural variantiVAR_00084067L → V.1
Natural variantiVAR_01047273I → N in VMD2. 1 Publication1
Natural variantiVAR_01737380F → L in VMD2. Corresponds to variant rs281865221dbSNPEnsembl.1
Natural variantiVAR_01047382L → V in VMD2. 2 PublicationsCorresponds to variant rs281865530dbSNPEnsembl.1
Natural variantiVAR_00084185Y → H in VMD2; decreased chloride and bicarbonate conductance. 3 PublicationsCorresponds to variant rs28940274dbSNPEnsembl.1
Natural variantiVAR_05827486V → M in ADVIRC. 1 PublicationCorresponds to variant rs121918289dbSNPEnsembl.1
Natural variantiVAR_01737489V → A in VMD2. 1 Publication1
Natural variantiVAR_01737591T → I in VMD2. Corresponds to variant rs281865223dbSNPEnsembl.1
Natural variantiVAR_01047492R → C in VMD2; loss of cloride and bicarbonate conductance. 2 PublicationsCorresponds to variant rs281865224dbSNPEnsembl.1
Natural variantiVAR_01047592R → H in VMD2. 1 PublicationCorresponds to variant rs281865225dbSNPEnsembl.1
Natural variantiVAR_00084292R → S in VMD2. Corresponds to variant rs281865224dbSNPEnsembl.1
Natural variantiVAR_00084393W → C in VMD2; no effect on subcellular location in transfected HEK293T cells; loss of cloride and bicarbonate conductance. 4 PublicationsCorresponds to variant rs28940273dbSNPEnsembl.1
Natural variantiVAR_01047696Q → H in VMD2. 1 PublicationCorresponds to variant rs281865226dbSNPEnsembl.1
Natural variantiVAR_00084499N → K in VMD2. Corresponds to variant rs281865227dbSNPEnsembl.1
Natural variantiVAR_000845100L → R in VMD2. Corresponds to variant rs281865228dbSNPEnsembl.1
Natural variantiVAR_017376101P → T in VMD2. Corresponds to variant rs281865229dbSNPEnsembl.1
Natural variantiVAR_017377102W → R in VMD2. 1 PublicationCorresponds to variant rs281865230dbSNPEnsembl.1
Natural variantiVAR_000846104D → E in VMD2. Corresponds to variant rs281865232dbSNPEnsembl.1
Natural variantiVAR_017378104D → H in VMD2. 1 PublicationCorresponds to variant rs281865231dbSNPEnsembl.1
Natural variantiVAR_025731105R → C in age-related macular degeneration. 1 PublicationCorresponds to variant rs281865273dbSNPEnsembl.1
Natural variantiVAR_025732113F → L in VMD2. 1 Publication1
Natural variantiVAR_010477119E → Q in a sporadic case of concentric annular macular dystrophy. 1 PublicationCorresponds to variant rs1805142dbSNPEnsembl.1
Natural variantiVAR_017379133N → K in VMD2. Corresponds to variant rs281865233dbSNPEnsembl.1
Natural variantiVAR_010478135G → S in VMD2. 1 PublicationCorresponds to variant rs281865234dbSNPEnsembl.1
Natural variantiVAR_017380140L → R in VMD2. Corresponds to variant rs281865235dbSNPEnsembl.1
Natural variantiVAR_063169140L → V in RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity. 2 PublicationsCorresponds to variant rs267606678dbSNPEnsembl.1
Natural variantiVAR_000847141R → H in VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance. 3 PublicationsCorresponds to variant rs121918284dbSNPEnsembl.1
Natural variantiVAR_010479146A → K in VMD2; sporadic; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant rs1800995dbSNPEnsembl.1
Natural variantiVAR_043493152P → A in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced whole-cell conductance. 2 Publications1
Natural variantiVAR_017381195A → V in ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance. 2 PublicationsCorresponds to variant rs200277476dbSNPEnsembl.1
Natural variantiVAR_025733201I → T in VMD2. 1 PublicationCorresponds to variant rs199529046dbSNPEnsembl.1
Natural variantiVAR_075347202R → W in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 1 PublicationCorresponds to variant rs765998048dbSNPEnsembl.1
Natural variantiVAR_063170205I → T in RP50; reduced channel activity. 1 PublicationCorresponds to variant rs267606680dbSNPEnsembl.1
Natural variantiVAR_025734207L → I in VMD2. 1 PublicationCorresponds to variant rs74653691dbSNPEnsembl.1
Natural variantiVAR_000848209S → N in VMD2. Corresponds to variant rs281865237dbSNPEnsembl.1
Natural variantiVAR_010480216T → I in a sporadic case of age-related macular degeneration. 1 PublicationCorresponds to variant rs281865275dbSNPEnsembl.1
Natural variantiVAR_000849218R → C in VMD2. 4 PublicationsCorresponds to variant rs281865238dbSNPEnsembl.1
Natural variantiVAR_010481218R → H in VMD2. 1 PublicationCorresponds to variant rs281865239dbSNPEnsembl.1
Natural variantiVAR_000850218R → Q in VMD2. 1
Natural variantiVAR_000851218R → S in VMD2. 1 PublicationCorresponds to variant rs281865238dbSNPEnsembl.1
Natural variantiVAR_025735221C → W in VMD2. 1 PublicationCorresponds to variant rs281865240dbSNPEnsembl.1
Natural variantiVAR_025736222G → V in a family affected by Leber congenital amaurosis/VMD2. 1 PublicationCorresponds to variant rs281865241dbSNPEnsembl.1
Natural variantiVAR_000852224L → M in VMD2. Corresponds to variant rs281865242dbSNPEnsembl.1
Natural variantiVAR_025737224L → P in VMD2. 1 PublicationCorresponds to variant rs281865243dbSNPEnsembl.1
Natural variantiVAR_000853227Y → C in RP50. 1 PublicationCorresponds to variant rs267606677dbSNPEnsembl.1
Natural variantiVAR_000854227Y → N in VMD2. 2 PublicationsCorresponds to variant rs28941469dbSNPEnsembl.1
Natural variantiVAR_063171228D → N in RP50; causes protein mislocalization to the cytoplasm. 1 PublicationCorresponds to variant rs267606676dbSNPEnsembl.1
Natural variantiVAR_000855231S → R in VMD2. Corresponds to variant rs281865244dbSNPEnsembl.1
Natural variantiVAR_010482235V → L in VMD2. 1 PublicationCorresponds to variant rs281865245dbSNPEnsembl.1
Natural variantiVAR_000856235V → M in VMD2. Corresponds to variant rs281865245dbSNPEnsembl.1
Natural variantiVAR_058275236Y → C in ADVIRC. 1 PublicationCorresponds to variant rs121918291dbSNPEnsembl.1
Natural variantiVAR_000857237T → R in VMD2. 1 PublicationCorresponds to variant rs281865246dbSNPEnsembl.1
Natural variantiVAR_058276239V → M in ADVIRC. 1 PublicationCorresponds to variant rs121918290dbSNPEnsembl.1
Natural variantiVAR_025738241T → N in VMD2. 1 PublicationCorresponds to variant rs281865247dbSNPEnsembl.1
Natural variantiVAR_058277242V → M in VMD2; late-onset of visual disturbance. 1 Publication1
Natural variantiVAR_025739243A → T in VMD2. 1 PublicationCorresponds to variant rs28940570dbSNPEnsembl.1
Natural variantiVAR_000858243A → V in VMD2. 1 PublicationCorresponds to variant rs28940570dbSNPEnsembl.1
Natural variantiVAR_025740275V → I in age-related macular degeneration. 1 PublicationCorresponds to variant rs281865276dbSNPEnsembl.1
Natural variantiVAR_025741276F → L in VMD2. 1 PublicationCorresponds to variant rs281865248dbSNPEnsembl.1
Natural variantiVAR_010483293Q → K in VMD2. 1 PublicationCorresponds to variant rs281865250dbSNPEnsembl.1
Natural variantiVAR_025742294L → V in VMD2. 1 PublicationCorresponds to variant rs281865251dbSNPEnsembl.1
Natural variantiVAR_025743295I → T in VMD2. 1 PublicationCorresponds to variant rs281865253dbSNPEnsembl.1
Natural variantiVAR_000859295Missing in VMD2. 1
Natural variantiVAR_025744296N → H in VMD2. 1 PublicationCorresponds to variant rs281865254dbSNPEnsembl.1
Natural variantiVAR_010484296N → S in VMD2. 1 PublicationCorresponds to variant rs281865255dbSNPEnsembl.1
Natural variantiVAR_000860297P → A in VMD2. Corresponds to variant rs1805143dbSNPEnsembl.1
Natural variantiVAR_010485297P → S in VMD2. 2 PublicationsCorresponds to variant rs1805143dbSNPEnsembl.1
Natural variantiVAR_025745298F → S in VMD2. 1 PublicationCorresponds to variant rs281865257dbSNPEnsembl.1
Natural variantiVAR_058313299G → A in VMD2. 1 Publication1
Natural variantiVAR_000861299G → E in VMD2. 1 PublicationCorresponds to variant rs28941468dbSNPEnsembl.1
Natural variantiVAR_010486300E → D in VMD2. 3 PublicationsCorresponds to variant rs1805144dbSNPEnsembl.1
Natural variantiVAR_000862300E → K in VMD2. Corresponds to variant rs281865258dbSNPEnsembl.1
Natural variantiVAR_000863301D → E in VMD2. 1 PublicationCorresponds to variant rs281865261dbSNPEnsembl.1
Natural variantiVAR_000864301D → N in VMD2. Corresponds to variant rs281865259dbSNPEnsembl.1
Natural variantiVAR_058278302 – 304Missing in VMD2. 1 Publication3
Natural variantiVAR_025746302D → G in VMD2. 1 PublicationCorresponds to variant rs281865263dbSNPEnsembl.1
Natural variantiVAR_025747302D → H in VMD2. 1 PublicationCorresponds to variant rs281865262dbSNPEnsembl.1
Natural variantiVAR_025748302D → V in VMD2. 1 PublicationCorresponds to variant rs281865263dbSNPEnsembl.1
Natural variantiVAR_025749303D → E in VMD2. 1 PublicationCorresponds to variant rs281865264dbSNPEnsembl.1
Natural variantiVAR_000865305F → S in VMD2. Corresponds to variant rs281865265dbSNPEnsembl.1
Natural variantiVAR_025750306E → D in VMD2. 1 PublicationCorresponds to variant rs281865267dbSNPEnsembl.1
Natural variantiVAR_025751306E → G in VMD2. 1 PublicationCorresponds to variant rs281865266dbSNPEnsembl.1
Natural variantiVAR_025752307T → A in VMD2. 1 PublicationCorresponds to variant rs281865268dbSNPEnsembl.1
Natural variantiVAR_010487307T → I in VMD2. 1 PublicationCorresponds to variant rs281865269dbSNPEnsembl.1
Natural variantiVAR_025753308N → S in VMD2. 1 PublicationCorresponds to variant rs281865270dbSNPEnsembl.1
Natural variantiVAR_000866310I → T in VMD2. Corresponds to variant rs281865271dbSNPEnsembl.1
Natural variantiVAR_000867311V → G in VMD2. 1
Natural variantiVAR_000868312D → N in VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 3 PublicationsCorresponds to variant rs281865277dbSNPEnsembl.1
Natural variantiVAR_043494317V → M in ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 2 PublicationsCorresponds to variant rs121918287dbSNPEnsembl.1
Natural variantiVAR_043495325M → T in ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance. 2 PublicationsCorresponds to variant rs368387447dbSNPEnsembl.1
Natural variantiVAR_043496357A → V.1 PublicationCorresponds to variant rs17854138dbSNPEnsembl.1
Natural variantiVAR_010488525E → A.1 PublicationCorresponds to variant rs200582915dbSNPEnsembl.1
Natural variantiVAR_010489557E → K.1 PublicationCorresponds to variant rs147192139dbSNPEnsembl.1
Natural variantiVAR_010490561T → A.1 PublicationCorresponds to variant rs281865283dbSNPEnsembl.1
Natural variantiVAR_010491567L → F in a sporadic case of age-related macular degeneration; unknown pathological significance. 1 PublicationCorresponds to variant rs148060787dbSNPEnsembl.1
Natural variantiVAR_009278578E → V.Corresponds to variant rs1800010dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0089731 – 60Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_008975290 – 316Missing in isoform 4. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_008974581 – 585DEAHS → SVLHLNQGHCIALCPTPASL ALSLPFLHNFLGFHHCQSTL DLRPALAWGIYLATFTGILG KCSGPFLTSPWYHPEDFLGP GEGR in isoform 3. 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073500
, AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
AF057169 mRNA. Translation: AAC64343.1.
AF057170 mRNA. Translation: AAC64344.1.
AF073501 mRNA. Translation: AAC33766.1.
AY515704 mRNA. Translation: AAR99654.1.
CH471076 Genomic DNA. Translation: EAW73982.1.
CH471076 Genomic DNA. Translation: EAW73985.1.
BC015220 mRNA. Translation: AAH15220.1.
BC041664 mRNA. Translation: AAH41664.1.
AK289681 mRNA. Translation: BAF82370.1.
AK295998 mRNA. Translation: BAH12234.1. Different initiation.
AK301392 mRNA. Translation: BAH13472.1. Different initiation.
CCDSiCCDS31580.1. [O76090-1]
CCDS44623.1. [O76090-3]
RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
NP_001287715.1. NM_001300786.1. [O76090-4]
NP_001287716.1. NM_001300787.1.
NP_004174.1. NM_004183.3. [O76090-1]
XP_005274272.1. XM_005274215.3.
XP_016873718.1. XM_017018229.1.
UniGeneiHs.524910.
Hs.712676.

Genome annotation databases

EnsembliENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
GeneIDi7439.
KEGGihsa:7439.
UCSCiuc001nsr.3. human. [O76090-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

VMD2 mutation database
Mutations of the BEST1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF073500
, AF073491, AF073492, AF073493, AF073494, AF073495, AF073496, AF073497, AF073498, AF073499 Genomic DNA. Translation: AAC64926.1.
AF057169 mRNA. Translation: AAC64343.1.
AF057170 mRNA. Translation: AAC64344.1.
AF073501 mRNA. Translation: AAC33766.1.
AY515704 mRNA. Translation: AAR99654.1.
CH471076 Genomic DNA. Translation: EAW73982.1.
CH471076 Genomic DNA. Translation: EAW73985.1.
BC015220 mRNA. Translation: AAH15220.1.
BC041664 mRNA. Translation: AAH41664.1.
AK289681 mRNA. Translation: BAF82370.1.
AK295998 mRNA. Translation: BAH12234.1. Different initiation.
AK301392 mRNA. Translation: BAH13472.1. Different initiation.
CCDSiCCDS31580.1. [O76090-1]
CCDS44623.1. [O76090-3]
RefSeqiNP_001132915.1. NM_001139443.1. [O76090-3]
NP_001287715.1. NM_001300786.1. [O76090-4]
NP_001287716.1. NM_001300787.1.
NP_004174.1. NM_004183.3. [O76090-1]
XP_005274272.1. XM_005274215.3.
XP_016873718.1. XM_017018229.1.
UniGeneiHs.524910.
Hs.712676.

3D structure databases

ProteinModelPortaliO76090.
SMRiO76090.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113279. 1 interactor.
MINTiMINT-239943.
STRINGi9606.ENSP00000399709.

Protein family/group databases

TCDBi1.A.46.1.1. the anion channel-forming bestrophin (bestrophin) family.

PTM databases

iPTMnetiO76090.
PhosphoSitePlusiO76090.

Polymorphism and mutation databases

BioMutaiBEST1.

Proteomic databases

PaxDbiO76090.
PeptideAtlasiO76090.
PRIDEiO76090.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378043; ENSP00000367282; ENSG00000167995. [O76090-1]
ENST00000449131; ENSP00000399709; ENSG00000167995. [O76090-3]
GeneIDi7439.
KEGGihsa:7439.
UCSCiuc001nsr.3. human. [O76090-1]

Organism-specific databases

CTDi